Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing

We used targeted next generation deep-sequencing (Safe Sequencing System) to measure ultra-rare de novo mutation frequencies in the human male germline by attaching a unique identifier code to each target DNA molecule. Segments from three different human genes (FGFR3, MECP2 and PTPN11) were studied....

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Detalles Bibliográficos
Autores principales: Eboreime, Jordan, Choi, Soo-Kung, Yoon, Song-Ro, Arnheim, Norman, Calabrese, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920415/
https://www.ncbi.nlm.nih.gov/pubmed/27341568
http://dx.doi.org/10.1371/journal.pone.0158340

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920415/
https://www.ncbi.nlm.nih.gov/pubmed/27341568
http://dx.doi.org/10.1371/journal.pone.0158340

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